Familial isolated hypoparathyroidism

Preferred Label : Familial isolated hypoparathyroidism;

ICD-11 definition : Familial isolated hypoparathyroidism is a rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects, with autosomal dominant or recessive inheritance.;

ICD-11 synonym : Hereditary isolated hypoparathyroidism;

Details

Origin ID

1079633828;

Currated CISMeF NLP mapping
- Familial isolated hypoparathyroidism [ORDO Disease]
- Familial isolated hypoparathyroidism (disorder) [SNOMED CT concept]
- Hypoparathyroidism familial isolated [MeSH concept]
- Hypoparathyroidism, familial isolated, 1 [OMIM Phenotype]
- familial isolated hypoparathyroidism [Disease (Nov.)]
- familial isolated hypoparathyroidism [DO Concept]
- hypoparathyroidism familial isolated [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients